Canonical Allele Identifier: CA10561624

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380901C>T , CM000685.2:g.154380901C>T	GRCh38
NC_000023.10:g.153609261C>T , CM000685.1:g.153609261C>T	GRCh37
NC_000023.9:g.153262455C>T	NCBI36
NG_008677.1:g.11466C>T , LRG_745:g.11466C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.469C>T	ENSP00000507245.1:p.Arg157Trp
ENST00000682478.1:n.659C>T
ENST00000683576.1:n.659C>T
ENST00000683627.1:c.469C>T	ENSP00000507533.1:p.Arg157Trp
ENST00000684082.1:c.426C>T	ENSP00000508266.1:n.426C>T
ENST00000684633.1:n.441C>T
ENST00000684678.1:c.465C>T	ENSP00000507059.1:n.465C>T
ENST00000369842.9:c.469C>T MANE Select	ENSP00000358857.4:p.Arg157Trp
ENST00000369835.3:c.364C>T	ENSP00000358850.3:p.Arg122Trp
ENST00000369842.8:c.469C>T	ENSP00000358857.4:p.Arg157Trp
ENST00000428228.5:c.*374C>T	ENSP00000401081.1:n.*374C>T
ENST00000471965.1:n.258C>T
ENST00000485261.1:n.738C>T
ENST00000486738.5:n.906C>T
ENST00000492448.1:n.452C>T
NM_000117.2:c.469C>T , LRG_745t1:c.469C>T	NP_000108.1:p.Arg157Trp
XM_024452349.1:c.475C>T	XP_024308117.1:p.Arg159Trp
NM_000117.3:c.469C>T MANE Select	NP_000108.1:p.Arg157Trp